Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01805530
Reference29 articles.
1. Bartlett, K. and Gompertz, D. Biotin activation of carboxylase activity in cultured fibroblasts.Clin. Chim. Acta 84 (1978) 399–401
2. Blom, W., de Muinck Keizer, S. and Scholte, H. Acetyl CoA carboxylase deficiency: an inborn error ofde novo fatty acid synthesis.N. Engl. J. Med. 305 (1981) 465–466
3. Burri, B., Sweetman, L. and Nyhan, W. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.J. Clin. Invest. 68 (1981) 1491–1495
4. Cowan, M., Wara, D., Packman, S., Ammann, A., Yoshino, M., Sweetman, L. and Nyhan, W. Multiple biotin dependent carboxylase deficiencies associated with defects in T and B cell immunity.Lancet 2 (1979) 115–118
5. Crocker, P., Fitch, M. and Ostwald, R. Effects of the unsaturation of dietary fat and of arachidonate supplementation on cholesterol pool expansion in the guinea pig.J. Nutr. 109 (1979) 927–938
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2. Dietary Biotin Intake Modulates the Pool of Free and Protein-Bound Biotin in Rat Liver;The Journal of Nutrition;2001-09-01
3. A catalogue of multiple congenital anomaly syndromes;Multiple Congenital Anomalies;1991
4. Fatty acid transport in multiple carboxylase deficiency fibroblasts;Journal of Inherited Metabolic Disease;1990-09
5. Evidence for a Pathogenic Role of ω6 Polyunsaturated Fatty Acid in the Cutaneous Manifestations of Biotin Deficiency;Journal of Pediatric Gastroenterology and Nutrition;1990-02
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